Pregledni rad
https://doi.org/10.21751/FRM-36-3-4-2
THE ROLE OF PHYSICAL MEDICINE AND REHABILITATION IN THE TREATMENT OF PATIENTS WITH POMPE DISEASE
Tamara Vukić
; Klinički zavod za rehabilitaciju i ortopedska pomagala Medicinskog fakulteta Sveučilišta u Zagrebu, KBC Zagreb
Ivan Pećin
; Zavod za bolesti metabolizma, Klinika za unutrašnje bolesti Medicinskog fakulteta Sveučilišta u Zagrebu, KBC Zagreb Adresa za dopisivanje: dr. sc. Tamara Vukić, dr. med., Klinički zavod za rehabilitaciju i ortopedska pomagala Medicinskog fakulteta Sveučilišta u Zagrebu, KBC Zagreb
Sažetak
Pompe disease or glycogen storage disease type II is an autosomal recessive metabolic disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). The deficiency of GAA leads to toxic accumulation of glycogen in various tissues and consequent numerous pathological processes. There are two basic forms of the disease: infantile and late-onset form, which differ depending on the severity of symptoms and on the age of onset of first symptoms. The infantile form is characterized by progressive hypertrophic cardiomyopathy, progressive muscle weakness with fatal course often in the first year of life, if untreated. Late-onset form is characterized by progressive myopathy of skeletal muscles and respiratory muscle weakness with most patients having some form of respiratory involvement, which can lead to severe respiratory failure. With disease progression patients often develop changes in the musculoskeletal system; joint contractures, scoliosis, osteoporosis etc., and further progression can eventually lead to severe disability. The disease is often unrecognized for a long time, and the diagnosis can be made by a simple assay GAA activity in dried blood spot. Enzyme replacement therapy (ERT) is the gold standard in the treatment of Pompe disease and should be started before irreversible organ damage. Studies have shown that the implementation of rehabilitation treatment in the management of these patients is a useful tool to strengthen the effects of ERT. Therefore, it is necessary to implement rehabilitation programs in the management of these patients in order to preserve and improve their clinical and functional status. Pulmonary rehabilitation and certain modalities of physical therapy with special emphasis on kinesitherapy are important factors in the management of patients with Pompe disease. Rehabilitation treatment in these patients should be comprehensive and individualized for the specific needs of each patient, which requires participation of the entire multidisciplinary team.
Ključne riječi
Pompe disease; glycogen storage disease type II; rehabilitation; physiotherapy; enzyme replacement therapy
Hrčak ID:
285824
URI
Datum izdavanja:
11.10.2022.
Posjeta: 652 *